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. 2021 Aug 30;10(17):3898.
doi: 10.3390/jcm10173898.

Long-Term Outcome of Patients with TPO Mutations

Leraz Tobias  1 , Ghadir Elias-Assad  2   3 , Morad Khayat  4 , Osnat Admoni  2 , Shlomo Almashanu  5 , Yardena Tenenbaum-Rakover  2   3
Affiliations

Long-Term Outcome of Patients with TPO Mutations

Leraz Tobias et al. J Clin Med. .

Abstract

Introduction: Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect causing congenital hypothyroidism (CH). We aimed to characterize the long-term outcome of patients with TPO deficiency.

Methods: Clinical and genetic data were collected retrospectively.

Results: Thirty-three patients with primary CH caused by TPO deficiency were enrolled. The follow-up period was up to 43 years. Over time, 20 patients (61%) developed MNG. Eight patients (24%) underwent thyroidectomy: one of them had minimal invasive follicular thyroid carcinoma. No association was found between elevated lifetime TSH levels and the development of goiter over the years.

Conclusions: This cohort represents the largest long-term follow up of patients with TPO deficiency. Our results indicate that elevated TSH alone cannot explain the high rate of goiter occurrence in patients with TPO deficiency, suggesting additional factors in goiter development. The high rate of MNG development and the risk for thyroid carcinoma indicate a need for long-term follow up with annual ultrasound scans.

Keywords: TPO mutation; congenital hypothyroidism; dyshormonogenesis; goiter; multinodular goiter; thyroid peroxidase (TPO) enzyme.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Massive MNG in a 15-year-old male with TPO mutation. (Written informed consent was obtained from the patient for publication of this case report).
See this image and copyright information in PMC

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